NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

Molecular Genetics and Metabolism

Volumn 97, Issue 3, 2009, Pages 185-189

  Leshinsky Silver, E ^a,b   Lebre, Anne Sophie ^c   Minai, Limor ^c   Saada, Ann ^d   Steffann, Julie ^c   Cohen, Sarit ^a,b   Rötig, Agnes ^c   Munnich, Arnold ^c   Lev, Dorit ^a   Lerman Sagie, Tally ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Assembly; Complex I; Leigh syndrome; Mitochondria; NDUFS4; Respiratory chain

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN STEM; CASE REPORT; CHILD; CLINICAL FEATURE; COMPLEX I DEFICIENCY; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; JEW; LEIGH DISEASE; MALE; MUTATIONAL ANALYSIS; NDUFS4 GENE; NEUROLOGIC EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

BASE SEQUENCE; BLOTTING, WESTERN; BRAIN STEM; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; FATAL OUTCOME; FIBROBLASTS; HUMANS; INFANT; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIA, MUSCLE; MOLECULAR SEQUENCE DATA; MUTATION; NADH DEHYDROGENASE; OXIDATIVE PHOSPHORYLATION;

EID: 67349159760     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.03.002     Document Type: Article

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